Links from Gene
Items: 1 to 20 of 1348
1.
rs1490434816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 3:73059969
(GRCh38)
3:73109121
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73059969:C:CC
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490010537 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATA>-
[Show Flanks]
- Chromosome:
- 3:73061124
(GRCh38)
3:73110275
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061121:TAATATA:TA
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1489990512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:73060332
(GRCh38)
3:73109483
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73060331:T:G
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000447/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000446/2
(Estonian)
- HGVS:
5.
rs1488672414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:73063151
(GRCh38)
3:73112302
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73063150:A:G
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
6.
rs1488029991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:73061434
(GRCh38)
3:73110585
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061433:T:A
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000546/1
(Korea1K)
- HGVS:
7.
rs1487253425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:73061944
(GRCh38)
3:73111095
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061943:C:A
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1487245728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:73062242
(GRCh38)
3:73111393
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73062241:A:T
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487094569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:73061048
(GRCh38)
3:73110199
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061047:A:G
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000003.12:g.73061048A>G, NC_000003.11:g.73110199A>G, NM_174907.4:c.407A>G, NM_174907.3:c.407A>G, NM_174907.2:c.407A>G, NM_001318025.2:c.236A>G, NM_001318025.1:c.236A>G, NM_001318026.2:c.293A>G, NM_001318026.1:c.293A>G, NM_001318027.2:c.-45A>G, NM_001318027.1:c.-45A>G, NM_019853.1:c.641A>G, NP_777567.1:p.Tyr136Cys, NP_001304954.1:p.Tyr79Cys, NP_001304955.1:p.Tyr98Cys
11.
rs1484762778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:73059795
(GRCh38)
3:73108946
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73059794:C:T
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000064/9
(GnomAD)
- HGVS:
12.
rs1484563046 has merged into rs1183652470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 3:73063472
(GRCh38)
3:73112623
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73063467:AAAAAAAA:AAAA,NC_000003.12:73063467:AAAAAAAA:AAAAAAA,NC_000003.12:73063467:AAAAAAAA:AAAAAAAAA
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
13.
rs1483819449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:73061834
(GRCh38)
3:73110985
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061833:A:T
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1483032458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:73060438
(GRCh38)
3:73109589
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73060437:A:G
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.001027/3
(KOREAN)
- HGVS:
15.
rs1482270304 has merged into rs534798966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:73063328
(GRCh38)
3:73112479
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:73063318:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.73063328_73063340del, NC_000003.12:g.73063330_73063340del, NC_000003.12:g.73063331_73063340del, NC_000003.12:g.73063332_73063340del, NC_000003.12:g.73063333_73063340del, NC_000003.12:g.73063334_73063340del, NC_000003.12:g.73063335_73063340del, NC_000003.12:g.73063336_73063340del, NC_000003.12:g.73063337_73063340del, NC_000003.12:g.73063338_73063340del, NC_000003.12:g.73063339_73063340del, NC_000003.12:g.73063340del, NC_000003.12:g.73063340dup, NC_000003.12:g.73063339_73063340dup, NC_000003.12:g.73063338_73063340dup, NC_000003.12:g.73063337_73063340dup, NC_000003.12:g.73063336_73063340dup, NC_000003.12:g.73063334_73063340dup, NC_000003.12:g.73063333_73063340dup, NC_000003.11:g.73112479_73112491del, NC_000003.11:g.73112481_73112491del, NC_000003.11:g.73112482_73112491del, NC_000003.11:g.73112483_73112491del, NC_000003.11:g.73112484_73112491del, NC_000003.11:g.73112485_73112491del, NC_000003.11:g.73112486_73112491del, NC_000003.11:g.73112487_73112491del, NC_000003.11:g.73112488_73112491del, NC_000003.11:g.73112489_73112491del, NC_000003.11:g.73112490_73112491del, NC_000003.11:g.73112491del, NC_000003.11:g.73112491dup, NC_000003.11:g.73112490_73112491dup, NC_000003.11:g.73112489_73112491dup, NC_000003.11:g.73112488_73112491dup, NC_000003.11:g.73112487_73112491dup, NC_000003.11:g.73112485_73112491dup, NC_000003.11:g.73112484_73112491dup
16.
rs1482227724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:73060140
(GRCh38)
3:73109291
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73060139:T:C
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1482013979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:73060837
(GRCh38)
3:73109988
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73060836:T:C
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000142/2
(TOMMO)
- HGVS:
18.
rs1481212438 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 3:73062293
(GRCh38)
3:73111445
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73062293:TG:TGTG
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
- Validated:
- by frequency
- MAF:
TG=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1480929719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:73061079
(GRCh38)
3:73110230
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73061078:T:C
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000005/1
(GnomAD_exomes)
- HGVS:
20.
rs1480603866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:73060800
(GRCh38)
3:73109951
(GRCh37)
- Canonical SPDI:
- NC_000003.12:73060799:A:G
- Gene:
- EBLN2 (Varview), PPP4R2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000022/3
(GnomAD)
G=0.000684/2
(KOREAN)
- HGVS: